Living with Stickler syndrome
A group of inherited conditions affecting facial shape, eyes, hearing, and joints.
Understanding Stickler syndrome
Signs vary widely, even within a family. The face often looks flat because the middle face bones are underdeveloped. Many people have Pierre Robin sequence: a cleft palate, a tongue set far back, and a small lower jaw. Many have high nearsightedness and other eye problems such as glaucoma, cataracts, or retinal detachment. Hearing loss is common and may worsen over time.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Flat facial look
- Cleft palate and small lower jaw
- Severe nearsightedness
- Cataracts, glaucoma, or retinal detachment
- Hearing loss
- Joint problems or early arthritis
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in BMP4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
American Cleft Palate Craniofacial Association, The Marfan Foundation and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: American Cleft Palate Craniofacial Association, The Marfan Foundation, World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with American Cleft Palate Craniofacial Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause Stickler syndrome, and GARD lists the BMP4 gene. It can be inherited in an autosomal dominant or autosomal recessive pattern.
Also known as: hereditary progressive arthroophthalmopathy; stickler dysplasia; wagner-stickler syndrome
Patient organizations
- American Cleft Palate Craniofacial AssociationStickler syndrome · United States
- The Marfan FoundationStickler syndrome · United States
- Coalition for Heritable Disorders of Connective TissueStickler syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Stickler syndrome.
Explore research for Stickler syndrome
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